Canonical Allele Identifier: CA362229538
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724969-G-A
MyVariant Identifiers: chr5:g.174151972G>A (hg19) chr5:g.174724969G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724969G>A , CM000667.2:g.174724969G>A GRCh38
NC_000005.9:g.174151972G>A , CM000667.1:g.174151972G>A GRCh37
NC_000005.8:g.174084578G>A NCBI36
NG_008124.1:g.5398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.310G>A MANE Select ENSP00000239243.5:p.Val104Ile
ENST00000239243.6:c.310G>A ENSP00000239243.5:p.Val104Ile
ENST00000507785.2:c.310G>A ENSP00000427425.1:p.Val104Ile
NM_002449.4:c.310G>A NP_002440.2:p.Val104Ile
NM_001363626.1:c.310G>A NP_001350555.1:p.Val104Ile
NM_002449.5:c.310G>A MANE Select NP_002440.2:p.Val104Ile
NM_001363626.2:c.310G>A NP_001350555.1:p.Val104Ile
Search 100 bp 5'
Search 100 bp 3'